Variant · Snv
IFT43 NM_001102564.3(IFT43):c.383G>A (p.Arg128Gln)
CI-VAR-00192007Explore in graph →p.Arg128GlnNM_001102564.3:c.383G>AClinVar 1133893 rs138684775
Curated evidence
Evidence by cancer (0 items)
Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.
Data not yet available
No curated evidence item references this variant yet.
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 1133893 | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81; Cranioectodermal dysplasia 3; Hepatocellular carcinoma; Adrenocortical carcinoma, hereditary | germline | 3 | Oct 06, 2025 | clinvar |